单词 | jervell-lange-nielsen syndrome |
释义 | Jervell-Lange-Nielsen syndromeJervell-Lange-Nielsen syndromeA rare (1:200,000) autosomal-recessive form of profound congenital deafness, associated with syncope and sudden cardiac death, caused by prolonged QT interval due to mutations in KCNQ1 or KCNE1, which encode proteins that co-assemble, thus forming a potassium channel. |
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